Mitochondrial DNA (mtDNA) mutations have long
been proposed to play important roles in the pathogenesis
of diabetes mellitus (DM). A large proportion of these mutations
are localized at the mt-tRNA genes. Owing to its high
mutation rate, a growing number of mt-tRNA mutations
have been reported; however some of them are neutral genetic
polymorphisms and will not result in the alteration of
the mitochondrial function responsible for DM. In this study,
we reassessed a recent reported “pathogenic” mutation,
tRNAGly T10003C, in a clinical manifestation of DM. We
first performed the conservation assessment of this mutation
between different species. Moreover, the bioinformatics
analysis was used to predict the secondary structure of mttRNAGly
in wild type version and the mutant carrying the
T10003C mutation. We also screened the presence of the
T10003C mutation in 500 unrelated DM patients and 300
healthy controls. We noticed that the T10003C mutation was
not very conserved and did not cause the secondary structure
change of mt-tRNAGly. Moreover, this mutation was absent
in the 500 unrelated DM patients and controls, suggesting
that this mutation may be a rare event in the human population.
In conclusion, the current study showed no association
between the T10003C mutation and DM in humans.